Research — GeneOps

rs2206949 — ESR1 ESR1 Intronic Endometriosis Variant

Chromosome 6 Risk Allele T Category Endometriosis & Uterine Health Endometriosis, Estrogen, Fertility, Reproductive Health, Women's Health, Bone Health

Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus independently associated with endometriosis susceptibility; the T allele modestly increases risk (OR ~1.10) and lies near ARMT1 (Acidic Residue Methyltransferase 1), influencing estrogen-sensitive gene regulation at this replicated endometriosis GWAS locus

rs2230926 — TNFAIP3 F127C

Chromosome 6 Risk Allele G Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Inflammation, Gut Barrier, Lupus, Rheumatoid Arthritis, Immune & Gut

Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negative feedback, increasing susceptibility to autoimmune and inflammatory diseases

rs2237583 — PON1 PON1 intron variant

Chromosome 7 Risk Allele C Category Vascular Inflammation & Remodeling Cardiovascular, Antioxidants, HDL Cholesterol, Oxidative Stress, Atherosclerosis

Intronic PON1 variant that modulates arylesterase activity of the HDL-bound antioxidant enzyme paraoxonase-1

rs2268363 — FSHR FSHR ART Response Variant

Chromosome 2 Risk Allele G Category Fertility & Ovarian Function Fertility, Reproductive Health, Gonadotropins, IVF, Male Fertility, Hormones

Intronic variant in the FSH receptor gene; identified in a genome-wide association study as associated with post-radiotherapy erectile dysfunction risk in African-American men; located in close proximity to rs2268361 and serves as an FSHR haplotype tag with potential relevance to gonadotropin signaling

rs2268458 — TSHR TSHR Intron 1 Meta-Analysis Variant

Chromosome 14 Risk Allele C Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Thyroid, Hormones & Thyroid, Immune & Autoimmune, Inflammation

Intronic variant in TSHR intron 1; the C allele increases susceptibility to Graves' disease — but notably shows no association with Graves' ophthalmopathy, suggesting variant-specific effects within this regulatory locus

rs2569190 — CD14 -159C>T

Chromosome 5 Risk Allele G Category Innate Immunity & Infection Defense Immune & Gut, Innate Immunity, Inflammation, Microbiome, Infectious Disease, Asthma

Promoter variant affecting CD14 expression and LPS receptor signaling — determines innate immune sensitivity to bacterial endotoxin and drives a classic gene-environment interaction with microbial exposure

rs2575876 — ABCA1

Chromosome 9 Risk Allele A Category Cholesterol & Lipoproteins Fat Metabolism, HDL Cholesterol, Cholesterol, Cardiovascular, Triglycerides

Intronic ABCA1 variant associated with HDL-C levels under a recessive model; AA homozygotes show measurably different cholesterol efflux capacity and face a heightened risk of adverse outcomes when HDL-C is abnormal

rs27524 — ERAP1

Chromosome 5 Risk Allele A Category Psoriasis & Spondyloarthropathy Immune System, Autoimmune, Inflammation, Psoriasis, MHC Antigen Presentation

Intronic ERAP1 variant that increases expression, raising psoriasis risk specifically in HLA-C*06:02 carriers

rs28777 — SLC45A2

Chromosome 5 Risk Allele A Category Skin & Eyes Pigmentation, Melanoma Risk, Sun Sensitivity, Skin Cancer, UV Protection

Intronic pigmentation variant in SLC45A2 strongly associated with skin color, hair color, and tanning ability; the light-pigmentation allele increases sun sensitivity and melanoma risk

rs28934880 — HSD3B2 Ala10Glu

Chromosome 1 Risk Allele A Category Reproductive Hormones Steroid Hormones, Steroid Metabolism, Fertility, Reproductive Health, Carrier Status, Congenital

Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; homozygotes develop salt-wasting congenital adrenal hyperplasia, heterozygous carriers are clinically normal but can pass the allele to offspring